This first of a series of three stories covering the 2014 MDA Clinical Conference discusses implications of new types of genetic testing

posted on March 28, 2014 - 10:57am

“Knowing, if not all, is almost all,” said Matthew Harms, a neurologist and neurophysiologist from Washington University in St. Louis, in his presentation on genetic testing for neuromuscular disorders at the 2014 MDA Clinical Conference, held in Chicago March 16-19.

The rapid pace of research, unprecedented number of treatments in clinical trials and opportunities to share ideas across diseases made for an exciting 2013 MDA Scientific Conference

posted on April 25, 2013 - 4:51pm

Turning neuromuscular disease research into treatments as quickly and effectively as possible was the overarching theme of dozens of formal presentations, nearly 200 scientific posters, and countless informal conversations at the MDA Scientific Conference, April 21-24.
A palpable sense of excitement pervaded the sold-out event thanks to the unprecedented number of experimental treatments in...

The AAP and the ACMG have issued recommendations on updated technologies and new uses of genetic testing and screening

posted on March 6, 2013 - 2:15pm

As scientists learn more about what our DNA can tell us about health and disease, public interest has intensified and genetic testing has become increasingly common. In response, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) have released new guidelines to address updated technologies and new uses of genetic testing and screening in...

A new research mouse may speed development of treatments for McArdle disease, and a conference this August will focus on several glycogen storage diseases

posted on July 5, 2012 - 6:00am

New research mouse mimics McArdle disease
Scientists in Spain have developed mice with a disorder that closely resembles the human metabolic muscle disorder known as McArdle disease (also called phosphorylase deficiency, myophosphorylase deficiency and glycogenosis type 5). The mice are expected to speed testing of treatments for this disorder.

John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...